Highest heterogeneity for cystic fibrosis: 36 Mutations account for 75% of all CF chromosomes in Turkish patients

American Journal of Medical Genetics

Volumn 113, Issue 3, 2002, Pages 250-257

  Kilinç, Mehmet Okyay ^a   Ninis, Vasiliki Ninidu ^a   Daǧli, Elif ^b   Demirkol, Mübeccel ^c   Özkinay, Ferda ^d   Arikan, Zeliha ^e   Çǧoulu, Özgür ^d   Hüner, Gülden ^c   Karakoç, Fazilet ^b   Tolun, Aslihan ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

^b MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d EGE UNIVERSITY   (Turkey)

^e Behcet Uz Children's Hospital   (Turkey)

Author keywords

3849+5G>A; 406 3T>C; CF; CFTRdele17b,18; E608G; K68E; Q493P; Turkish; V1147I

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME DELETION; CHROMOSOME MUTATION; CYSTIC FIBROSIS; DNA POLYMORPHISM; EUROPE; GENE FREQUENCY; GENE LOCUS; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; TURKEY (REPUBLIC); GENE DELETION; GENETIC POLYMORPHISM; GENETICS; RNA SPLICING;

AMINO ACID SUBSTITUTION; CYSTIC FIBROSIS; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; POLYMORPHISM, GENETIC; RNA SPLICE SITES; SEQUENCE DELETION; TURKEY;

EID: 18344406691     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10721     Document Type: Article

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